Gene, liphatsa tsa lefutso, chromosome: tlhaloso, sebopeho, mosebetsi

"Gene", "phatsa ea lefutso", "chromosome" - mantsoe hore ba tseba ho e mong le schoolchild. Empa maikutlo a ka taba ena ka toka generalized ka ho tebisa ka morung skeletal hloka tsebo e khethehileng le takatso ea ho utloisisa kaofela. 'Me e ke, haeba ho ke ke le teng ka boemo ba ho tseba ho eketsehileng, ho nyamela ka potlako tlas'a boima ba nehelano. A re ke re leka ho utloisisa intricacies ea boitsebiso bo liphatseng tsa lefutso tsa saense le Polar foromo.

Ke seo phatsa ea lefutso?

Gene - the phatsa nyenyane ka ho fetisisa mehaho le tshebetso litaba tsa lefutso ka lintho tse phelang. Ha e le hantle ho ke ke sekhechana se senyenyane sa DNA, e leng e na le tsebo e mabapi le itseng tatelano amino acid e ho aha protheine kapa tshebetso RNA (eo le eona e tla tsa maiketsetso protheine). Phatsa ea lefutso ea etsang qeto litšobotsi tse se futsitseng 'me ba fetisetsa litloholo tsa ketane meloko. Ba bang ba phelang ba se nang balekane-e nang le sele, ho na le liphatsa tsa lefutso se seng, e leng e sa amanang le ho ho ikatisa ya mofuta bona, e bitsoa tshekaletseng.

"Ka mahetleng" ea liphatsa tsa lefutso e le boikarabelo bo boholo bakeng sa kamoo e tla talima le ho sebetsa mong le e mong seleng ea le phelang ka kakaretso. Ba laola bophelo ba rōna ho tloha ka motsotso oa emoloa ho phefumoloho ho qetela.

Pele mohato saense pele ho ithuta lefutso ho ile ha etsoa ke Austria moitlami Gregor Mendel, ea ileng a 1866 e hatisitsoeng hlokometse'ng hae ka liphello tsa tšela ea lierekisi. Lefa lintho tse bonahalang, e leng o ile a sebelisa ka ho hlaka o ile a bontša matšoao a ho dipaterone, phetiso, tse kang 'mala le sebopeho oa lierekisi le lipalesa. moitlami ena rerileng melao eo thehoa ho qaleha ha liphatsa tsa lefutso e le saense e sa. Lefa la liphatsa tsa lefutso ke hobane batsoali ba fa bana ba bona bakeng sa halofo ea chromosomes lona. Kahoo, matšoao a 'Mè le Ntate, ho kopanya ho theha e motswako e ncha ea litšobotsi se a le teng. Ka lehlohonolo, dikgetho le ba fetang libōpuoa tse phelang lefatšeng, 'me ke ke ha khoneha ho fumana tse peli libōpuoa feletseng le tsoanang.

Mendel ile a bontša hore lintlha lefa ha e tsoakiloeng, 'me ba a tšoaetsanoang ka ka mokgwa wa discrete (arohaneng) diyuniti ho batsoali ho bana. diyuniti tsena li bontša ka exemplar lipara (alleles) u lule u discrete le a tšoaetsanoang ka ho atleha meloko e ka diretswe go dira gametes motona le e motšehali, mong le e mong eo e na le e 'ngoe ya ka yuniti ya mong le e para. Ka 1909, ka Sedanishe botanist Johannsen bitsoa diyuniti tsena tsa liphatsa tsa lefutso. Ka 1912, e sa liphatsa tsa lefutso ho tloha United States of America, Morgan o ile a bontša hore ba ka chromosomes ena.

Ho tloha ka nako eo, ho ile ha nka lilemo tse fetang lekholo halofo, 'me lithuto tsa ba tsoetse pele ho pejana ho feta Mendel a ka be a nahanne kateng. Ka nako eo, bo-rasaense ba ile ba lula ka maikutlo a hore boitsebiso bo bolokoa liphatsa tsa lefutso, ba rerang kgolo, ntshetsopele le mosebetsi ea lintho tse phelang. 'Me mohlomong le lefu la bona.

tlhophiso

sebopeho phatsa ea lefutso e na le se lesedi feela ka protheine e, empa hape e bontša ha le hore na e bala, 'me merero e mebe ea lefeela ho hlokahala hore ho arolelana tlhahisoleseding e mabapi le liprotheine tse fapaneng le emisa tswakana ea limolek'hule tlhahisoleseding.

Ho na le mefuta e 'meli tsa liphatsa tsa lefutso:

1. Mehaho - ba na le boitsebiso bo mabapi le sebōpeho sa liprotheine kapa liketane ka RNA. The nucleotide tatelano tšoana le amino acid e.
2. liphatsa tsa lefutso tsa tshebetso le boikarabelo bakeng sa sebopeho sa e nepahetseng ea setseng likarolo DNA ea tatelano synchronism, le ho e bala.

Ho fihlela joale, bo-rasaense ba khona ho araba potso e reng: bakae liphatsa tsa lefutso ka chromosome joang? karabo e tla u makatsa: ka tse limilione tse likete tse tharo lipara. 'Me sena ke e mong oa tse mashome a mabeli e meraro feela. Liphatsa tsa lefutso e nyenyane ka ho fetisisa mehaho unit trust, empa ho ka fetola bophelo ba motho.

liphetoho liphatseng tsa lefutso

Ketsahalo e sa Lebelloang kapa ka boomo phetoho ea tatellanong nucleotide hara DNA Strand, bitsoa phetoho liphatseng tsa lefutso. E ka hang ama sebōpeho sa protheine, 'me ka ho feletseng sotha thepa ea eona. Ho joalo, e tla ba se boleloang moo le ea lefatše lohle ea phetoho e joalo.

Ba le bang, ba liphetoho liphatseng tsa lefutso e ka 'na pathogenic, ke hore e bonahale e le lefu kapa kotsi, se ke ra lumella' mele ho hlahisa boemong solofetsang. Empa boholo ba liphetoho tseo ke sebeletsang pepeneneng ho batho ba. Deletions le duplications lula ikemiseditse ka hare ho DNA, empa u se ke ua ama tsela ea bophelo ba motho ka mong.

Hlakolwa - ho lahleheloa ke sebakeng chromosome eo e na le tlhahisoleseding e itseng. Ka linako tse ling liphetoho tsena li molemo ho 'mele. Ba mo thusa hore a sireletse a khahlanong le mabifi ka ntle, tse kang batho immunodeficiency kokoana-hloko 'me libaktheria li hlasela.

Kopitsa - e palopedi ea sebaka se chromosome, 'me ka hona e behiloeng ea liphatsa tsa lefutso tseo ho na le, e boetse e imena habeli. Ka lebaka la ho pheta-pheta oa boitsebiso, ho ke ke ho ya ka tlaase ho moo ho ikatisa, 'me ka hona a ka ipokellela liphetoho liphatseng tsa lefutso le ho fetola' mele kapele.

thepa phatsa ea lefutso

Motho ka mong o na le e kholo ea DNA molek'hule. Liphatsa tsa lefutso - tshebetso unit trust ka hare sebopeho sa lona. Empa esita le libakeng tsena tse nyenyane ba le bona e ikhethang thepa ea hore ho dumella ho boloka botsitso ba bophelo manyolo:

1. Balegang - le matla a ho se kopanya liphatsa tsa lefutso.
2. Botsitso - sa ho boloka ya sebopeho le thepa.
3. Lability - le matla a ho fetola tlas'a tšusumetso ea maemo, ho tloaela tikoloho e tletseng bora.
4. Multiple length allelism - teng ka hare ho DNA ea liphatsa tsa lefutso tseo, khouto le protheine e tšoanang ke ya sebopeho fapaneng.
5. Allelic - ho na le mefuta e 'meli ea phatsa ea lefutso e mong.
6. Khethehileng - letšoao mong = phatsa ea lefutso e mong o se futsitseng.
7. Pleiotropy - multiplicity tsa liphello tsa liphatsa tsa lefutso e le 'ngoe.
8. Expressivity - tiea pontšo eo e khouthollotsweng ke phatsa ea lefutso e.
9. Penetrance - maqhubu a ya genotype ka phatsa ea lefutso e.
10. Kholiso - ketsahalo ea bohlokoa phatsa ea lefutso kopi nomoro DNA.

liphatsa tsa lefutso

The liphatsa tsa lefutso tsa botho - e kaofela lefa lintho tse bonahalang, e leng ka seleng le 'ngoe ea batho. Hore e fana ka tataiso e ka kaho ea 'mele, makala, liphetoho fisioloji. The tlhaloso bobeli lentsoe le bontša sebōpeho sa ya kgopolo ya ho, ho ena le mosebetsi ya. The liphatsa tsa lefutso tsa botho - e le pokello ea lintho tse bonahalang le liphatsa tsa lefutso tletse ka sete haploid tsa chromosomes (23 lipara) le amana le mofuta itseng.

Motheong oa liphatsa tsa lefutso ho ke molek'hule ea acid e deoxyribonucleic ba tsebahala e le DNA. genomes tsohle na le mefuta e bonyane tse pedi tsa lesedi: tlhahisoleseding coded ka sebōpeho sa limolek'hule intermediary (seo ho thoeng ke RNA) le protheine (tlhahisoleseding ena e tse liphatsa tsa lefutso), hammoho le litaelo tse hlalosa nako le sebaka sa ponahatso ea boitsebiso boo ntshetsopele ya ntho e phelang. Liphatsa tsa lefutso ho bona ka bobona lula e le karolo e nyenyane ea liphatsa tsa lefutso, empa ke motheo oa lona. boitsebiso bo tlalehiloeng ka liphatsa tsa lefutso e - e le ea mofuta ofe tataiso bakeng sa tlhahiso ea lihaha-'mele, motheo diboloko tse ahang 'mele ea rōna.

Leha ho le joalo, bakeng sa characterization feletseng tsa liphatsa tsa lefutso e insufficiently kenyelletsoa ho eona boitsebiso bo mabapi le sebōpeho sa liprotheine le. Hloka boitsebiso bo eketsehileng mabapi le boemo ba leholimo ba sethusathuto sa liphatsa tsa lefutso, e leng se nka karolo mosebetsing oa liphatsa tsa lefutso ho laola ho hlahisa maikutlo a bona ka mekhahlelo e fapaneng ea ho hōla le ho ba maemong a fapaneng bophelong.

Empa esita le hona ha hoa lekana bakeng sa boikemisetso ba tse feletseng tsa liphatsa tsa lefutso le. Hobane ho eona ho na le boetse ho na le thepa ea motheo e tlatsetsang ho lona ho intša ho ikatisa (boikatiso), diseke ee sephutheloana DNA ka khubung ea, le esita le ba bang e sa tloaelehang leha ho le joalo libakeng tse, ka linako tse ling se bitsoang "boithati" (ke hore, haeba feela bakeng sa basebetsi maphelong a bona). Ka mabaka ana 'ohle, ka nako eo ha ho tluoa tabeng ea liphatsa tsa lefutso, hangata na le a nahanne ka bothe tsa tatellanong ea DNA bontšitsoe chromosomes ea nuclei seleng ea ya mofuta o itseng tsa lintho tse phelang, ho akarelletsa le, ya e le hantle, le liphatsa tsa lefutso.

The boholo le ka sebōpeho sa liphatsa tsa lefutso sa

Ke ho utloahalang ho nahana hore phatsa ea lefutso, phatsa ea lefutso, chromosome e fapaneng ka baemeli ba e fapaneng ya bophelo Lefatšeng. Ba e ka ba e le lekanngoe nyenyane le e khōlō 'me li na le ba limilione tse likete lipara tsa liphatsa tsa lefutso. Sebopeho sa liphatsa tsa lefutso li tla hape itšetleha ka hore na u hlahloba eo liphatsa tsa lefutso.

Ke karo-karolelano pakeng tsa boholo ba liphatsa tsa lefutso 'me palo ea liphatsa tsa lefutso tsa lona setho sa lihlopha tse peli ka khetholloa:

1. Diseke ee genomes tse sa bokatlase ba fetang limilione tse leshome. Ba na le sete ya liphatsa tsa lefutso e ka matla correlated ka boholo. The bath ho fetisisa tsa likokoana-hloko le prokaryotes.
2. E pharaletseng genomes bopilwe ba fetang limilione tse 100 botlaaseng lipara, ba se nang kamano e pakeng tsa bolelele bona 'me palo ea liphatsa tsa lefutso. More atile eukaryotes. Boholo ba tatellanong nucleotide ka sehlopha sena se encode liprotheine kapa RNA.

Liphuputso li bontšitse hore ho na le ka bang 28.000 liphatsa tsa lefutso ka liphatsa tsa lefutso tsa botho. Di unevenly aba ka mose chromosomes, empa boleng ba tšobotsi ena e ntse e le sephiri ho bo-rasaense.

chromosome

Chromosomes - ke mokhoa oa ambalaji ya lintho tse bonahalang tse liphatsa tsa lefutso. Li fumanoa ka khubung ea lisele eukaryotic, 'me e mong le e na le e' ngoe e telele haholo DNA molek'hule. Ho ka ba bonolo ho bonoa ya microscope khanya mosebetsing oa ho fission. Karyotype e bitsoa sete e feletseng ea chromosomes, eo e itseng bakeng sa e mong le e mofuta. likarolo tlamang bakeng sa bona le centromere, telomere le boikatiso ntlha.

Liphetoho tsa chromosomes nakong karohano seleng ea

Gene, liphatsa tsa lefutso, chromosome - e seriale ya data phetiso diyuniti oa potoloho, moo e mong le e kenyeletsang fetileng tse latelang. Empa ba ile ba hlaheloa ke liphetoho tse itseng ka tsela ea bophelo ea sele. Ka mohlala, ka interphase (pakeng tsa likarohano) ka chromosomes khubung ba lokisetsa loosely, nka sebaka e ngata.

Ha sele o lokisetsa bakeng sa mitosis (m. E. Ho tshebetso karohano ka tse pedi), le chromatin condenses le e sothehileng ka chromosomes, 'me hona joale e ba bonahalang ka ya microscope leseli. Ka metaphase chromosomes tšoana melamu e ratang le haufi le e mong le e meng 'me e amana le constriction mathomo kapa centromere. Ho na le boikarabelo bakeng sa sebopeho sa e leakage radiation mitotic, ha sehlopha sa chromosomes Teng tsoha. Ho itšetlehile ka lefelo la centromere le, ho na le tlhophiso ea chromosomes:

1. Acrocentric - tabeng ena, centromere e teng fapane ka ho feletseng mabapi le e le setsi sa chromosome e.
2. Submetacentric ha mahetleng (ke hore, libaka tse pele le ka mor'a centromere) tsa bolelele sa lekaneng.
3. Metacentric haeba centromere arola le chromosome hantle bohareng.

tlhophiso ona chromosomes e ile sisintsweng ka 1912 'me e sebelisoa ke litsebi tsa baeloji ho fihlela kajeno.

chromosome anomalies

Joalokaha eka ke ka likarolo tse ling morphological ba iphelisa phelang, chromosomes hape e ka etsahala liphetoho mehaho tse amang mosebetsi bona:

1. Aneuploidy. Ena phetoho e palo ea chromosomes ka karyotype ka phaella ka ho re kapa ho tlosa e mong oa bona. Liphello tsa liphetoho liphatseng tsa lefutso tse kang tsena e ka ba bolaeang ho lesea e-s'o hlahe, empa hape bakela likoli tsoalo.
2. Polyploidy. Ho bonahala e le ho eketseha ha palo ea chromosomes, multiple halofo palo ea tsona. Hangata ka ho fetisisa e fumanoang ka limela, tse kang dimelametsing le li-fungus.
3. Chromosomal aberrations, kapa tsosoloso, - ho fetola a sebōpeho sa chromosome e le tlas'a tšusumetso ea lintlha tikoloho.

liphatsa tsa lefutso

Liphatsa tsa lefutso - ea saense hore o ithuta melao ea lefutso le phetoho, hammoho le ho etsa bonnete ba mekgwa bona likokoana-hloko. Ho fapana le tse ling tse ngata saense tsa likokoana-hloko e tsoa ho e thehoa feela ea eona, e ne a batla ho ba le saense ea hantle. Histori eohle ea liphatsa tsa lefutso - ke pale ea pōpo le ho sebelisoa ha mekhoa feta le e nepahetseng ho feta le atamela. Likhopolo le mekhoa ea liphatsa tsa lefutso li phetha karolo ea bohlokoa ka moriana, temo, fetola liphatsa tsa lefutso, indasteri maekoroboiloji.

Lefutso - le matla a 'mele a ho fana ka letoto la intergenerational tswelopela tsa morphological, skeletal le fisioloji litšobotsi tse le litšobotsi. Mosebetsing oa ho ea lefa la bapala ka sehloohong mefuta-itseng, sehlopha (merabe, baahi) le lintho tse khethollang lelapa la sebopeho le tshebetsong tsa lintho tse phelang le ontogeny bona (ntshetsopeleng motho). E seng feela seo re se futsitseng itseng mehaho le tshebetso litšobotsi tsa 'mele (litšobotsi tsa sefahleho, tse hlahang ho dithulaganyo le tshilong ya dijo, halefang et al a.), Empa hape litšobotsi physicochemical ya sebopeho le tšebetso ea sele motheo ea biopolymers. A iponahatsa - mefuta e fapaneng ya le matšoao har'a mefuta e itseng, hammoho le thepa ea eona le litloholo tsa theko e fapaneng ho tloha liforomo batsoali. A iponahatsa le lefutso ke tse peli tse ba aroloa thepa ea lintho tse phelang.

lefu fatše e

Fatše e lefu - lefu le liphatsa tsa lefutso tseo ho tsona karyotype na le chromosomes 47 ka ho ena le hore e tloaelehileng 46. Sena ke mofuta o mong oa aneuploidy, joalokaha ho bontšitsoe ka holimo. Ka para mashome a mabeli-lekhetlo la pele ba chromosomes ho na le e eketsehileng eo o phaella ka ho fumana boitsebiso bo eketsehileng bo liphatseng tsa lefutso tsa liphatsa tsa lefutso tsa botho.

lebitso la lona lefu e ile ea rehelloa ngaka, Don Down, ea ileng a fumana le hlalosa ka lingoliloeng tseo e le mokhoa oa ho hloka taolo ba kelello ho 1866. Empa semelo sa liphatsa tsa lefutso ho ile ha fumanoa hoo e ka bang makholo a lilemo hamorao.

Mafu a Hlahang

Ka nako eo, ho karyotype la 47 chromosomes batho le hlaha hanngoe ka masea a sekete (eo e neng Lipalo-palo e ne e fapane). Ena e ne e entsoe leboha khoneha ho fumanoe tsa pele tsa bolwetse bona. Lefu lena le ha ea itšetleha ka morabe, hlahang ho yona merabe kapa 'mè oa boemo hae sechabeng. Susumetsoa ke lilemo. Menyetla ea ho ba le lesea le Down syndrome eketseha ka mora lilemo tse mashome a mararo a metso e mehlano, 'me ka mor'a mashome a mane palo ea bana ba phetseng hantle bakuli se lekana le 20 ho ea ho 1. The lilemo li ntate ea lilemo tse fetang mashome a mane hape eketsa menyetla ea ho ba le lesea le aneuploidy.

Mofuta o mong oa lefu Down

The atileng ka ho fetisisa fapaneng - ho hlaha ha e chromosome e eketsehileng ka para mashome a mabeli-lekhetlo la pele ka tsela e seng ea lefa. Ke ka lebaka la hore nakong ea banyalani ba bang ba meiosis ha lumellane ka karohano leakage radiation. ba etsang liphesente tse hlano tsa Maemong a hlokomela mosaicism (chromosome e eketsehileng e na hase bohle ba lisele tsa 'mele). Hammoho ba etsa liphesente tse mashome a robong a metso e mehlano tsa palo ea batho ba nang le sekoli ena congenital. Tse setseng ba etsang liphesente tse hlano tsa lefu e bakoa ke lefa le trisomy chromosome mashome a mabeli-lekhetlo la pele. Leha ho le joalo, ho hlaha ha bana ba babeli ba nang le lefu lena ka lelapa le le leng hanyenyane feela.

Tleliniki

A motho ea nang le lefu Down ka o ile a hlokomela ke litšobotsi bath ka ntle, mona ke tse ling tsa tsona:

- pantshisi-tse sefahleho;
- ka shortened lehata (ho parola teba ho feta longitudinal);
- letlalo lesaka ka molaleng;
- lemenong la letlalo hore koahela k'honeng ka hare la leihlo;
- ka tsela e feteletseng tsamaiso manonyello;
- fokotseha mesifa molumo;
- flattening tsa morao hlooho;
- maoto le matsoho lekgutshwanyane le menoana;
- ntshetsopele ya lera ka bana ba baholoanyane ho feta lilemo tse robeli;
- anomalies tsa meno le mahalapa a;
- lefu congenital pelo;
- ho na le ka 'na ba le lefu tsoeroe ke sethoathoa;
- kankere ea mali.

Empa ka ho hlaka hlahloba thehiloeng feela liponahatso ka ntle, ka ho hlakileng, ke ke ha khoneha. Ho hlokahala hore ho karyotyping.

bofello

Gene, phatsa ea lefutso, chromosome - ho bonahala eka ho feela lentsoe le bao moelelo re utloisisa mmoho le ka remoutu haholo. Empa ha e le hantle, ba ile ba ka matla ama bophelo ba rōna le a feto-fetohang, 'me re tlameha ho fetoha. Monna eo o tseba ho ikamahanya le maemo, eng kapa eng eo ba ne ba, le esita le bakeng sa batho ba nang le e sa tloaelehang le liphatsa tsa lefutso ho na le kamehla nako le sebaka moo ba ileng ba tla ba irreplaceable.